MCID: MYT023
MIFTS: 56

Myotonia Congenita

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myotonia Congenita

MalaCards integrated aliases for Myotonia Congenita:

Name: Myotonia Congenita 12 25 20 43 53 58 36 29 54 6 44 15 70
Congenital Myotonia, Autosomal Dominant Form 12 29 6
Thomsen and Becker Disease 20 58
Congenital Myotonia 43 58
Generalized Myotonia of Thomsen 70
Thomsen's Disease 12
Thomsen Disease 12

Characteristics:

Orphanet epidemiological data:

58
thomsen and becker disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

25
Penetrance Pathogenic variants identified in ad myotonia congenita can be associated with variable expression and reduced penetrance [sun et al 2001, colding-jørgensen 2005, brugnoni et al 2013, orsini et al 2020].

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2106
KEGG 36 H00705
ICD9CM 34 359.22
MeSH 44 D009224
NCIt 50 C84912
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 71 C0027127 C2936781
SNOMED-CT via HPO 68 274523007 3434004
UMLS 70 C0027127 C2936781

Summaries for Myotonia Congenita

MedlinePlus Genetics : 43 Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect.The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.

MalaCards based summary : Myotonia Congenita, also known as congenital myotonia, autosomal dominant form, is related to myotonia and paramyotonia congenita of von eulenburg, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tongue and brain, and related phenotypes are myotonia and emg abnormality

Disease Ontology : 12 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

GARD : 20 Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is the most common and severe, generalized form; and Thomsen disease, which is a rare and milder form. Both forms are caused by mutations in the CLCN1 gene. The Becker type is inherited in an autosomal recessive manner, and the Thomsen type is inherited in an autosomal dominant manner. Treatment may include medication for muscle stiffness, such as mexiletine, carbamazepine, or phenytoin. Exercise may temporarily alleviate myotonia. People with myotonia congenita may be at increased risk for harmful side effects of anesthesia. Therefore, it is recommended that relatives of a person with the disease are tested during childhood.

NINDS : 53 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles.

KEGG : 36 Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.

Wikipedia : 73 Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles... more...

GeneReviews: NBK1355

Related Diseases for Myotonia Congenita

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 myotonia 32.3 SCN4A GH-LCR CNBP CLCN1
2 paramyotonia congenita of von eulenburg 32.1 SCN4A KCNJ2 GH-LCR CLCN1 CACNA1S
3 myotonic dystrophy 31.1 LOC108644431 CNBP CLCN1
4 muscle hypertrophy 31.0 SCN4A MSTN CLCN1
5 myotonic disease 30.7 SCN4A CNBP CLCN1
6 periodic paralysis 30.6 SCN4A KCNJ2 CACNA1S
7 hypokalemic periodic paralysis, type 2 30.3 SCN4A GH-LCR
8 muscular disease 30.2 MSTN CNBP CLCN1
9 periodic paralyses 30.1 SCN4A KCNJ2 GH-LCR CACNA1S
10 myotonic dystrophy 2 30.0 SCN4A LOC108644431 CNBP CLCN1
11 neuromuscular disease 30.0 SCN4A MSTN CNBP CLCN1 CACNA1S
12 myopathy 30.0 SCN4A MSTN LOC108644431 GH-LCR CNBP CLCN1
13 hypokalemia 29.9 SCN4A CLCNKB CACNA1S
14 hypokalemic periodic paralysis, type 1 29.7 SCN4A KCNJ2 GH-LCR CLCN1 CACNA1S
15 hyperkalemic periodic paralysis 29.5 SCN4A KCNJ2 GLRB GH-LCR CNBP CLCN1
16 myotonia congenita, autosomal recessive 11.8
17 myotonia congenita, autosomal dominant 11.8
18 myotonia, potassium-aggravated 11.6
19 thomsen's myotonia 11.2
20 becker's myotonia 11.2
21 nondystrophic myotonia 11.2
22 batten-turner congenital myopathy 11.1
23 endomyocardial fibrosis 10.8
24 normokalemic periodic paralysis 10.3 SCN4A GH-LCR
25 malignant hyperthermia 10.3
26 myasthenic syndrome, congenital, 16 10.2 SCN4A GH-LCR
27 neuropathy, hereditary sensory and autonomic, type vii 10.2 SCN4A CACNA1S
28 joubert syndrome 17 10.2 SCN4A GH-LCR
29 myotonic dystrophy 1 10.2
30 myasthenia gravis 10.2
31 hypothyroidism 10.2
32 skeletal muscle disease 10.2
33 malignant hyperthermia susceptibility 10.2 SCN4A CACNA1S
34 graves disease 1 10.1 SCN4A CACNA1S
35 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1 GH-LCR CACNA1S
36 muscle tissue disease 10.1 MSTN CNBP CLCN1
37 episodic kinesigenic dyskinesia 1 10.1
38 strabismus 10.1
39 monocular esotropia 10.1
40 mechanical strabismus 10.1
41 esotropia 10.1
42 muscular dystrophy 10.1
43 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 SCN4A CLCN5
44 thyrotoxic periodic paralysis 10.1 SCN4A KCNJ2 CACNA1S
45 episodic ataxia 10.0 SCN4A PRRT2 GH-LCR CACNA1S
46 migraine, familial hemiplegic, 1 10.0 PRRT2 CACNA1S
47 infantile bartter syndrome with sensorineural deafness 10.0 CLCNKB CLCNKA
48 migraine with or without aura 1 10.0 SCN4A PRRT2 CLCN1 CACNA1S
49 muscular dystrophy, duchenne type 10.0
50 andersen cardiodysrhythmic periodic paralysis 10.0 SCN4A KCNJ2 CLCN1 CACNA1S

Graphical network of the top 20 diseases related to Myotonia Congenita:



Diseases related to Myotonia Congenita

Symptoms & Phenotypes for Myotonia Congenita

Human phenotypes related to Myotonia Congenita:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457

UMLS symptoms related to Myotonia Congenita:


muscular stiffness; lid lag

GenomeRNAi Phenotypes related to Myotonia Congenita according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 CACNA1S CLCN5 CLCN7 CLCNKA

MGI Mouse Phenotypes related to Myotonia Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 CACNA1S CLCN1 CLCN3 CLCN6 CLCN7 CLCNKA
2 growth/size/body region MP:0005378 10.1 CACNA1S CLCN1 CLCN3 CLCN5 CLCN7 CLCNKA
3 homeostasis/metabolism MP:0005376 10.07 CACNA1S CLCN1 CLCN3 CLCN4 CLCN5 CLCN7
4 muscle MP:0005369 9.76 CACNA1S CLCN1 CLCN3 GLRB KCNJ2 MSTN
5 renal/urinary system MP:0005367 9.5 CLCN3 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
6 skeleton MP:0005390 9.36 CACNA1S CLCN1 CLCN3 CLCN5 CLCN7 CLCNKA

Drugs & Therapeutics for Myotonia Congenita

Drugs for Myotonia Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Sodium Channel Blockers Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Anti-Arrhythmia Agents Phase 3
6 Psychotropic Drugs Phase 3
7 Anticonvulsants Phase 3
8 Antipsychotic Agents Phase 3
9 Hormones Phase 3
10 calcium channel blockers Phase 3
11 Calcium, Dietary Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
4 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
5 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
6 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366

Search NIH Clinical Center for Myotonia Congenita

Cochrane evidence based reviews: myotonia congenita

Genetic Tests for Myotonia Congenita

Genetic tests related to Myotonia Congenita:

# Genetic test Affiliating Genes
1 Myotonia Congenita 29
2 Congenital Myotonia, Autosomal Dominant Form 29 CLCN1

Anatomical Context for Myotonia Congenita

MalaCards organs/tissues related to Myotonia Congenita:

40
Skeletal Muscle, Tongue, Brain

Publications for Myotonia Congenita

Articles related to Myotonia Congenita:

(show top 50) (show all 519)
# Title Authors PMID Year
1
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. 25 54 6 61
15162127 2004
2
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 54 25 61 6
11840191 2001
3
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 54 25 6 61
9566422 1998
4
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. 54 61 25 6
8857733 1996
5
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita. 6 25 61
32117024 2020
6
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 25 6 61
29606556 2018
7
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 61 25 6
23893571 2014
8
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 61 25 6
23739125 2013
9
Prevalence study of genetically defined skeletal muscle channelopathies in England. 25 6 61
23516313 2013
10
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 6 25 61
24349310 2013
11
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 61 6 25
21387378 2011
12
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 6 25 61
17932099 2007
13
Phenotypic variability in myotonia congenita. 6 25 61
15786415 2005
14
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 6 25 61
11113225 2000
15
Founder mutations and the high prevalence of myotonia congenita in northern Finland. 6 25 61
10430417 1999
16
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 25 54 6
8571958 1996
17
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 6 25
22407275 2012
18
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 6 54 61
19697366 2010
19
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 61 54 6
19949657 2009
20
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. 6 25
18337730 2008
21
Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation. 6 54 61
18220014 2007
22
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression. 6 61 54
17097617 2006
23
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita. 6 54 61
15311340 2004
24
Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. 6 54 61
15116370 2004
25
Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 54 6 61
12661046 2003
26
A novel alteration of muscle chloride channel gating in myotonia levior. 61 54 6
12456816 2002
27
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. 6 54 61
10690989 2000
28
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. 61 6 54
10215406 1998
29
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 61 6 54
9122265 1997
30
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. 61 6 54
9040760 1997
31
Myotonia levior is a chloride channel disorder. 6 61 54
7581380 1995
32
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 54 6 61
7951242 1994
33
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 61 54 6
8112288 1994
34
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. 61 6
29480456 2018
35
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. 6 61
29935101 2018
36
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient. 61 6
30243293 2018
37
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. 61 6
29424939 2018
38
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). 61 6
29405036 2017
39
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 6 61
28427807 2017
40
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. 6 61
28706458 2017
41
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 61 6
27415035 2017
42
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. 61 6
27614575 2016
43
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. 61 6
27580824 2016
44
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. 6 61
26036855 2016
45
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 61 6
26502825 2015
46
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 6 61
26096614 2015
47
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 61 6
26007199 2015
48
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels. 61 6
26021757 2015
49
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. 61 6
25749817 2015
50
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 61 6
25065301 2015

Variations for Myotonia Congenita

ClinVar genetic disease variations for Myotonia Congenita:

6 (show top 50) (show all 493)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NM_000083.3(CLCN1):c.979+1G>A SNV Pathogenic 17534 rs1563078827 GRCh37: 7:143027991-143027991
GRCh38: 7:143330898-143330898
2 CLCN1 CLCN1, 14-BP DEL Deletion Pathogenic 17540 GRCh37:
GRCh38:
3 CLCN1 NG_009815.1:g.19647-?_28496+?dup Duplication Pathogenic 40242 GRCh37:
GRCh38:
4 CLCN1 NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) SNV Pathogenic 17543 rs121912807 GRCh37: 7:143036627-143036627
GRCh38: 7:143339534-143339534
5 CLCN1 NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) SNV Pathogenic 462829 rs1554434400 GRCh37: 7:143016887-143016887
GRCh38: 7:143319794-143319794
6 CLCN1 NM_000083.3(CLCN1):c.469del (p.Leu157fs) Deletion Pathogenic 462831 rs1554434794 GRCh37: 7:143018492-143018492
GRCh38: 7:143321399-143321399
7 CLCN1 NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) SNV Pathogenic 462830 rs1554439817 GRCh37: 7:143047480-143047480
GRCh38: 7:143350387-143350387
8 CLCN1 NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter) Indel Pathogenic 17547 rs1586496726 GRCh37: 7:143027909-143027911
GRCh38: 7:143330816-143330818
9 CLCN1 NM_000083.3(CLCN1):c.979+1G>T SNV Pathogenic 932027 GRCh37: 7:143027991-143027991
GRCh38: 7:143330898-143330898
10 CLCN1 NM_000083.3(CLCN1):c.1412C>T (p.Ser471Phe) SNV Pathogenic 21038 rs80356693 GRCh37: 7:143036356-143036356
GRCh38: 7:143339263-143339263
11 CLCN1 NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) SNV Pathogenic 21039 rs80356695 GRCh37: 7:143036382-143036382
GRCh38: 7:143339289-143339289
12 CLCN1 NM_000083.3(CLCN1):c.2330del (p.Gly777fs) Deletion Pathogenic 21042 rs80356707 GRCh37: 7:143043715-143043715
GRCh38: 7:143346622-143346622
13 CLCN1 NM_000083.3(CLCN1):c.2512_2513insCTCA (p.His838fs) Insertion Pathogenic 21043 rs80356698 GRCh37: 7:143047664-143047665
GRCh38: 7:143350571-143350572
14 CLCN1 NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys) SNV Pathogenic 21044 rs80356684 GRCh37: 7:143017849-143017849
GRCh38: 7:143320756-143320756
15 CLCN1 NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) SNV Pathogenic 21048 rs80356688 GRCh37: 7:143021579-143021579
GRCh38: 7:143324486-143324486
16 CLCN1 NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) SNV Pathogenic 21051 rs80356691 GRCh37: 7:143027940-143027940
GRCh38: 7:143330847-143330847
17 CLCN1 NM_000083.3(CLCN1):c.830dup (p.Cys277fs) Duplication Pathogenic 17544 rs140026363 GRCh37: 7:143021561-143021562
GRCh38: 7:143324468-143324469
18 CLCN1 NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs) Microsatellite Pathogenic 623350 rs752041565 GRCh37: 7:143029843-143029846
GRCh38: 7:143332750-143332753
19 CLCN1 NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) SNV Pathogenic 804708 rs139039122 GRCh37: 7:143020402-143020402
GRCh38: 7:143323309-143323309
20 CLCN1 NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) SNV Pathogenic 17535 rs121912801 GRCh37: 7:143036620-143036620
GRCh38: 7:143339527-143339527
21 CLCN1 NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 17537 rs80356694 GRCh37: 7:143036383-143036383
GRCh38: 7:143339290-143339290
22 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
23 CLCN1 NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) SNV Pathogenic 17541 rs121912805 GRCh37: 7:143027882-143027882
GRCh38: 7:143330789-143330789
24 CLCN1 NM_000083.3(CLCN1):c.382A>G (p.Met128Val) SNV Pathogenic 17546 rs80356699 GRCh37: 7:143017837-143017837
GRCh38: 7:143320744-143320744
25 CLCN1 NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) SNV Pathogenic 17548 rs121912810 GRCh37: 7:143018811-143018811
GRCh38: 7:143321718-143321718
26 CLCN1 CLCN1, TRP433ARG Variation Pathogenic 17549 GRCh37:
GRCh38:
27 CLCN1 CLCN1, TRP433ARG Variation Pathogenic 17549 GRCh37:
GRCh38:
28 CLCN1 NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) SNV Pathogenic 447043 rs767000881 GRCh37: 7:143028408-143028408
GRCh38: 7:143331315-143331315
29 CLCN1 NM_000083.3(CLCN1):c.1918del (p.Val640fs) Deletion Pathogenic 462826 rs1554438574 GRCh37: 7:143039585-143039585
GRCh38: 7:143342492-143342492
30 CLCN1 NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 447058 rs201894078 GRCh37: 7:143039544-143039544
GRCh38: 7:143342451-143342451
31 CLCN1 NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) Indel Pathogenic 447074 rs1554436419 GRCh37: 7:143027909-143027910
GRCh38: 7:143330816-143330817
32 CLCN1 NM_000083.3(CLCN1):c.1471+1G>A SNV Pathogenic 447052 rs375596425 GRCh37: 7:143036416-143036416
GRCh38: 7:143339323-143339323
33 CLCN1 NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) SNV Pathogenic 17542 rs80356702 GRCh37: 7:143027961-143027961
GRCh38: 7:143330868-143330868
34 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
35 CLCN1 NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) SNV Pathogenic 21046 rs80356685 GRCh37: 7:143018837-143018837
GRCh38: 7:143321744-143321744
36 CLCN1 NM_000083.3(CLCN1):c.382A>G (p.Met128Val) SNV Pathogenic 17546 rs80356699 GRCh37: 7:143017837-143017837
GRCh38: 7:143320744-143320744
37 CLCN1 NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) SNV Pathogenic 21041 rs80356697 GRCh37: 7:143039106-143039106
GRCh38: 7:143342013-143342013
38 CLCN1 NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) SNV Pathogenic 21040 rs80356704 GRCh37: 7:143039031-143039031
GRCh38: 7:143341938-143341938
39 CLCN1 NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 17537 rs80356694 GRCh37: 7:143036383-143036383
GRCh38: 7:143339290-143339290
40 CLCN1 NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) SNV Pathogenic 21037 rs80356703 GRCh37: 7:143028358-143028358
GRCh38: 7:143331265-143331265
41 CLCN1 NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) SNV Pathogenic 531747 rs764100025 GRCh37: 7:143027903-143027903
GRCh38: 7:143330810-143330810
42 CLCN1 NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) SNV Pathogenic 21037 rs80356703 GRCh37: 7:143028358-143028358
GRCh38: 7:143331265-143331265
43 CLCN1 NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) SNV Pathogenic 21040 rs80356704 GRCh37: 7:143039031-143039031
GRCh38: 7:143341938-143341938
44 CLCN1 NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) SNV Pathogenic 447078 rs774396430 GRCh37: 7:143027990-143027990
GRCh38: 7:143330897-143330897
45 CLCN1 NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) Deletion Pathogenic 567845 rs780534566 GRCh37: 7:143047670-143047671
GRCh38: 7:143350577-143350578
46 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
47 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) Deletion Pathogenic 570543 rs1563084597 GRCh37: 7:143039083-143039084
GRCh38: 7:143341990-143341991
48 CLCN1 NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) Duplication Pathogenic 447048 rs763633152 GRCh37: 7:143029822-143029823
GRCh38: 7:143332729-143332730
49 CLCN1 NM_000083.3(CLCN1):c.2285-1G>C SNV Pathogenic 573366 rs1222525763 GRCh37: 7:143043671-143043671
GRCh38: 7:143346578-143346578
50 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) SNV Pathogenic 447045 rs201714423 GRCh37: 7:143028708-143028708
GRCh38: 7:143331615-143331615

Expression for Myotonia Congenita

Search GEO for disease gene expression data for Myotonia Congenita.

Pathways for Myotonia Congenita

Pathways related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 SCN4A CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
2
Show member pathways
13.1 GLRB CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
3
Show member pathways
12.29 SCN4A CLCN7 CLCN6 CLCN5 CLCN4 CLCN3
4
Show member pathways
12.1 GLRB CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
5
Show member pathways
11.37 CLCNKB CLCNKA CLCN7 CLCN6 CLCN5 CLCN4
6 10.83 CLCNKB CLCNKA

GO Terms for Myotonia Congenita

Cellular components related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.13 SCN4A PRRT2 KCNJ2 GLRB CLCNKB CLCNKA
2 endosome membrane GO:0010008 9.67 CLCN6 CLCN5 CLCN4 CLCN3
3 integral component of plasma membrane GO:0005887 9.61 SCN4A KCNJ2 GLRB CLCNKB CLCNKA CLCN5
4 synaptic vesicle GO:0008021 9.56 PRRT2 CLCN5 CLCN4 CLCN3
5 lysosomal membrane GO:0005765 9.55 CLCN7 CLCN6 CLCN5 CLCN4 CLCN3
6 chloride channel complex GO:0034707 8.92 GLRB CLCNKB CLCNKA CLCN1

Biological processes related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 SCN4A CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
2 ion transport GO:0006811 9.93 SCN4A KCNJ2 GLRB CLCNKB CLCNKA CLCN7
3 ion transmembrane transport GO:0034220 9.92 GLRB CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
4 regulation of ion transmembrane transport GO:0034765 9.85 SCN4A KCNJ2 CLCNKB CLCNKA CLCN1 CACNA1S
5 proton transmembrane transport GO:1902600 9.63 CLCN5 CLCN4 CLCN3
6 muscle contraction GO:0006936 9.61 SCN4A CLCN1 CACNA1S
7 chloride transmembrane transport GO:1902476 9.61 GLRB CLCNKB CLCNKA CLCN7 CLCN6 CLCN5
8 excretion GO:0007588 9.58 CLCNKB CLCNKA CLCN5
9 chloride transport GO:0006821 9.28 GLRB CLCNKB CLCNKA CLCN7 CLCN6 CLCN5

Molecular functions related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.73 SCN4A KCNJ2 CLCNKB CLCNKA CLCN1 CACNA1S
2 chloride channel activity GO:0005254 9.56 GLRB CLCNKB CLCNKA CLCN7 CLCN5 CLCN4
3 antiporter activity GO:0015297 9.55 CLCN7 CLCN6 CLCN5 CLCN4 CLCN3
4 solute:proton antiporter activity GO:0015299 9.5 CLCN5 CLCN4 CLCN3
5 chloride transmembrane transporter activity GO:0015108 9.37 CLCN7 CLCN6
6 voltage-gated chloride channel activity GO:0005247 9.23 CLCNKB CLCNKA CLCN7 CLCN6 CLCN5 CLCN4

Sources for Myotonia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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